ClinVar Miner

List of variants studied for Neuromuscular disease and ocular or auditory anomalies with or without seizures by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile)	rs1582940678	0.00001
NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu)	rs1582953009
NM_003587.5(DHX16):c.2021C>T (p.Thr674Met)	rs1582931908
NM_003587.5(DHX16):c.2091G>T (p.Gln697His)	rs1582931640

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